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GENE - TERM ANNOTATION REPORT

RGD ID: 14091630
Species: Sus scrofa
RGD Object: Gene
Symbol: PALLD
Name: palladin, cytoskeletal associated protein
Acc ID: DOID:0110092
Term: short-rib thoracic dysplasia 6 with or without polydactyly
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21211617 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22499340 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PALLD ISOPALLD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactylyPMID:22499340 PMID:28492532 PMID:29068549
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